Relationship between self-declared ethnicity, mitochondrial haplogroup and genomic ancestry in individuals from southeast of Brazil

Em populações onde há um alto grau de miscigenação, como no Brasil, o uso exclusivo de informações da etnia auto-declarada não é um bom método de classifi cação étnica. Neste trabalho, nós avaliamos a relação entre as etnias auto-declaradas com ancestralidade genômica e haplogrupos mitocondriais em 492 indivíduos do Sudeste Brasileiro. Haplogrupos mitocondriais foram obtidos pela análise das regiões hipervariáveis do DNA mitocondrial (mtDNA) e a ancestralidade genômica foi obtida utilizando 48 marcadores autossômicos informativos de ancestralidade (AIM). Dos 492 indivíduos, 74,6% se auto-declararam brancos, 13,8% pardos e 10,4% pretos. Em relação aos haplogrupos mitocondriais, 46,3% apresentaram mtDNA Africano e a maior contribuição de ancestralidade genômica foi Europeia (57,4%). Quando realizamos a distribuição do mtDNA e ancestralidade genômica de acordo com as etnias auto-declaradas, dos 367 indivíduos auto-declarados brancos, encontramos 37,6% com mtDNA Africano, sendo observado maior contribuição de ancestralidade Europeia (63,3%). Dos 68 indivíduos auto-declarados pardos, 25% apresentaram mtDNA Ameríndio e pouca diferen-ça na contribuição de ancestralidade Europeia e Africana. Dos 51 indivíduos auto-declarados pretos, 80,4% apresentaram mtDNA Africano e maior contribuição de ancestralidade Africana (55,6%). A população brasileira apresenta uma uniformidade de ancestralidade genômica Ameríndia, e apenas o uso de marcadores genéticos (autossômico e mitocondrial) foi capaz de capturar essa informação. Sugerimos que estudos epidemiológicos façam o uso associado destes métodos, pois poderiam fornecer informações complementares.In populations where there is a high degree of admixture, as in Brazil, the sole use of ethnicity self-declaration information is not a good method of ethnic classifi cation. We evaluate the relationship between self-declared ethnicities with genomic ancestry and mitochondrial haplogroups in 492 individuals from Southeastern Brazil. Mitochondrial haplogroups were obtained by analyzing the hypervariable regions of mitochondrial DNA (mtDNA) and genomic ancestry was obtained using 48 autosomal ancestry informative markers (AIM). Of the 492 individuals, 74.6% self-declared as white, 13.8% as Brown and 10.4% as Black. In relation of mtDNA haplogroups, 46.3% presented African mtDNA and the major genomic ancestry was European (57.4%). When we performed the distribution of mtDNA and genomic ancestry according to the self-declared ethnicities, from 367 individuals self-declared white, 37.6% showed African mtDNA, and had a higher contribution of European ancestry (63.3%). The 68 individuals self-declared brown, 25% showed Amerindian mtDNA and few differences in the averages contribution of European and African ancestries. Those 51 subjects self-declared black, 80.4% had African mtDNA and the main contribution of African ancestry (55.6%). The Brazilian population had a very uniform degree of Amerindian genomic ancestry, and only by using genetic markers (autosomal and mitochondrial) we were able to capture this information. Epidemiological studies should use the association of these methods to provide complementary information

Relação entre a etnia auto-declarada, haplogrupo mitocondrial e ancestralidade genômica em indivíduos do sudeste brasileiro.

In populations where there is a high degree of admixture, as in Brazil, the sole use of ethnicity self-declaration information is not a good method of ethnic classifi cation. We evaluate the relationship between self-declared ethnicities with genomic ancestry and mitochondrial haplogroups in 492 individuals from Southeastern Brazil. Mitochondrial haplogroups were obtained by analyzing the hypervariable regions of mitochondrial DNA (mtDNA) and genomic ancestry was obtained using 48 autosomal ancestry informative markers (AIM). Of the 492 individuals, 74.6% self-declared as white, 13.8% as Brown and 10.4% as Black. In relation of mtDNA haplogroups, 46.3% presented African mtDNA and the major genomic ancestry was European (57.4%). When we performed the distribution of mtDNA and genomic ancestry according to the self-declared ethnicities, from 367 individuals self-declared white, 37.6% showed African mtDNA, and had a higher contribution of European ancestry (63.3%). The 68 individuals self-declared brown, 25% showed Amerindian mtDNA and few differences in the averages contribution of European and African ancestries. Those 51 subjects self-declared black, 80.4% had African mtDNA and the main contribution of African ancestry (55.6%). The Brazilian population had a very uniform degree of Amerindian genomic ancestry, and only by using genetic markers (autosomal and mitochondrial) we were able to capture this information. Epidemiological studies should use the association of these methods to provide complementary information.Em populações onde há um alto grau de miscigenação, como no Brasil, o uso exclusivo de informações da etnia auto-declarada não é um bom método de classifi cação étnica. Neste trabalho, nós avaliamos a relação entre as etnias auto-declaradas com ancestralidade genômica e haplogrupos mitocondriais em 492 indivíduos do Sudeste Brasileiro. Haplogrupos mitocondriais foram obtidos pela análise das regiões hipervariáveis do DNA mitocondrial (mtDNA) e a ancestralidade genômica foi obtida utilizando 48 marcadores autossômicos informativos de ancestralidade (AIM). Dos 492 indivíduos, 74,6% se auto-declararam brancos, 13,8% pardos e 10,4% pretos. Em relação aos haplogrupos mitocondriais, 46,3% apresentaram mtDNA Africano e a maior contribuição de ancestralidade genômica foi Europeia (57,4%). Quando realizamos a distribuição do mtDNA e ancestralidade genômica de acordo com as etnias auto-declaradas, dos 367 indivíduos auto-declarados brancos, encontramos 37,6% com mtDNA Africano, sendo observado maior contribuição de ancestralidade Europeia (63,3%). Dos 68 indivíduos auto-declarados pardos, 25% apresentaram mtDNA Ameríndio e pouca diferen-ça na contribuição de ancestralidade Europeia e Africana. Dos 51 indivíduos auto-declarados pretos, 80,4% apresentaram mtDNA Africano e maior contribuição de ancestralidade Africana (55,6%). A população brasileira apresenta uma uniformidade de ancestralidade genômica Ameríndia, e apenas o uso de marcadores genéticos (autossômico e mitocondrial) foi capaz de capturar essa informação. Sugerimos que estudos epidemiológicos façam o uso associado destes métodos, pois poderiam fornecer informações complementares

ACVR1B rs2854464 is associated with sprint/power athletic status in a large cohort of Europeans but not Brazilians

Skeletal muscle strength and mass, major contributors to sprint/power athletic performance, are influenced by genetics. However, to date, only a handful of genetic variants have been associated with sprint/power performance. The ACVR1B A allele (rs rs2854464) has previously been associated with increased muscle-strength in non-athletic cohort. However, no follow-up and/or replications studies have since been conducted. Therefore, the aim of the present study was to compare the genotype distribution of ACVR1B rs2854464 between endurance athletes (E), sprint/power (S/P) athletes, mixed athletes (M), and non-athletic control participants in 1672 athletes (endurance athletes, n = 482; sprint/power athletes, n = 578; mixed athletes, n = 498) and 1089 controls (C) of both European Caucasians (Italian, Polish and Russians) and Brazilians. We have also compared the genotype distribution according to the athlete's level of competition (elite vs. sub-elite). DNA extraction and genotyping were performed using various methods. Fisher's exact test (adjusted for multiple comparisons) was used to test whether the genotype distribution of rs2854464 (AA, AG and GG) differs between groups. The A allele was overrepresented in S/P athletes compared with C in the Caucasian sample (adjusted p = 0.048), whereas there were no differences in genotype distribution between E athletes and C, in neither the Brazilian nor the Caucasian samples (adjusted p > 0.05). When comparing all Caucasian athletes regardless of their sporting discipline to C, we found that the A allele was overrepresented in athletes compared to C (adjusted p = 0.024). This association was even more pronounced when only elite-level athletes were considered (adjusted p = 0.00017). In conclusion, in a relatively large cohort of athletes from Europe and South America we have shown that the ACVR1B rs2854464 A allele is associated with sprint/power performance in Caucasians but not in Brazilian athletes. This reinforces the notion that phenotype-genotype associations may be ethnicity-dependent